The NOD2 3020insC Mutation and the Risk of Colorectal Cancer

Abstract Several predispositions to colorectal cancer have been identified, butlittle is known about genetic susceptibilities to disease in older persons.Colorectal cancer is a risk in Crohn’s disease and is believed to beassociated with an inappropriate inflammatory response. Recently, theNOD2 gene has been associated with Crohn’s disease, which furtherstrengthens the notion that the inflammatory response plays a crucial rolein this disease. Several mutations have been identified in the NOD2 gene,which appear with significantly higher frequency in patients with thedisease. One such mutation (3020insC) is believed to be clearly causativebecause it results in a prematurely truncated protein with a predictedreduction in functional efficiency. In this report, we have examined thefrequency of the 3020insC mutation in a series of 856 individuals including556 patients with colorectal cancer. The frequency of the 3020insC mu-tation in a consecutive series of 250 non-hereditary nonpolyposis colorec-tal cancer patients